Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.

Micheal, Shazia; Niewold, Ilse Therésia Gabriëla; Siddiqui, Sorath Noorani; Zafar, Saemah Nuzhat; Khan, Muhammad Imran; Bergen, Arthur A B

Micheal, Shazia; Niewold, Ilse Therésia Gabriëla; Siddiqui, Sorath Noorani; Zafar, Saemah Nuzhat; Khan, Muhammad Imran; Bergen, Arthur A B.

Afiliação

Micheal S; Department of Clinical Genetics, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. s.micheal@amc.uva.nl.
Niewold ITG; Department of Clinical Genetics, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. i.t.niewold@amc.uva.nl.
Siddiqui SN; Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Eye Trust Hospital Jhelum Road, Rawalpindi 46000, Pakistan. sorathnoorani@yahoo.com.
Zafar SN; Department of Pediatric Ophthalmology and Strabismus, Al-Shifa Eye Trust Hospital Jhelum Road, Rawalpindi 46000, Pakistan. saemahsaqib@yahoo.co.uk.
Khan MI; Department of Human Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands. MuhammadImran.Khan@radboudumc.nl.
Bergen AAB; Department of Clinical Genetics, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. aabergen@amc.uva.nl.

Genes (Basel) ; 9(2)2018 Feb 20.

Article em En | MEDLINE | ID: mdl-29461512

Palavras-chave

GJA3 gene; GJA8; congenital cataract; homozygosity mapping; mutation; proband; sanger sequencing; segregation

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Genes (Basel) Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google